ClinVar Miner

List of variants studied for autoinflammatory syndrome of childhood by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_148919.4(PSMB8):c.407+6C>T rs9276810 0.42678
NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=) rs11554400 0.06936
NM_032193.4(RNASEH2C):c.468+13G>A rs182000627 0.00178
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021 0.00038

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